OBO ID: DOID:1930
Term Name: Laurence-Moon syndrome Search Ontology:
Synonyms:
  • Laurence-Moon-Biedl syndrome
  • LNMS
Definition: A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. https://www.ncbi.nlm.nih.gov/pubmed/25480986
References:
  • GARD:12635
  • MEDDRA:10056710
  • MESH:D007849
  • NCI:C34760
  • OMIM:245800
  • ORDO:2377
  • SNOMEDCT_US_2023_03_01:232059000
  • UMLS_CUI:C0023138
Ontology: Human Disease   ( DOID:1930 )
Relationships
is a type of:
OTHER Laurence-Moon syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPLA6 ?Laurence-Moon syndrome 245800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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